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rs121913628

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Familial hypertrophic cardiomyopathy (possible)
(G;G) 0 common in clinvar


Make rs121913628(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position23424059
GeneMYH7
is asnp
is mentioned by
dbSNPrs121913628
ClinGenrs121913628
ebirs121913628
HLIrs121913628
Exacrs121913628
Varsomers121913628
Maprs121913628
PheGenIrs121913628
hapmaprs121913628
1000 genomesrs121913628
hgdprs121913628
ensemblrs121913628
gopubmedrs121913628
geneviewrs121913628
scholarrs121913628
googlers121913628
pharmgkbrs121913628
gwascentralrs121913628
openSNPrs121913628
23andMers121913628
23andMe allrs121913628
SNP Nexus

SNPshotrs121913628
SNPdbers121913628
MSV3drs121913628
GWAS Ctlgrs121913628
Max Magnitude6
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].
OMIM160760
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121913628(A;A)
Alt rs121913628(A;A)
Reference Rs121913628(G;G)
Significance Other
Disease Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Cardiovascular phenotype
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy Cardiovascular phenotype
Reversed 1
HGVS NC_000014.8:g.23893268C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015148.29, RCV000035824.3, RCV000158573.2, RCV000197762.1, RCV000252292.1,